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RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit [ Homo sapiens (human) ]

Gene ID: 5929, updated on 29-May-2016
Official Symbol
RBBP5provided by HGNC
Official Full Name
RB binding protein 5, histone lysine methyltransferase complex subunitprovided by HGNC
Primary source
HGNC:HGNC:9888
See related
Ensembl:ENSG00000117222 HPRD:02826; MIM:600697; Vega:OTTHUMG00000037104
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RBQ3; SWD1
Summary
This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
Orthologs
Location:
1q32
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (205086142..205122022, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205055270..205091150, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene contactin 2 Neighboring gene transmembrane protein 81 Neighboring gene glycogenin 2 pseudogene 2 Neighboring gene dual serine/threonine and tyrosine protein kinase Neighboring gene ribosomal protein L17 pseudogene 8 Neighboring gene uncharacterized LOC101929459 Neighboring gene transmembrane and coiled-coil domain family 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
  • Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
    Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
    Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
    Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
  • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
    PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to histone methyltransferase activity (H3-K4 specific) IDA
Inferred from Direct Assay
more info
PubMed 
histone-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
MLL3/4 complex IDA
Inferred from Direct Assay
more info
PubMed 
Set1C/COMPASS complex IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase complex IPI
Inferred from Physical Interaction
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
retinoblastoma-binding protein 5
Names
RBBP-5
SWD1, Set1c WD40 repeat protein, homolog
retinoblastoma binding protein 5
retinoblastoma-binding protein RBQ-3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001193272.1NP_001180201.1  retinoblastoma-binding protein 5 isoform 2

    See identical proteins and their annotated locations for NP_001180201.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AK290137, AL583832, BC037284, BQ020418, DA797022
    Consensus CDS
    CCDS53463.1
    UniProtKB/Swiss-Prot
    Q15291
    Related
    ENSP00000356132, OTTHUMP00000035178, ENST00000367164, OTTHUMT00000090078
    Conserved Domains (2) summary
    COG2319
    Location:38321
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:30322
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001193273.1NP_001180202.1  retinoblastoma-binding protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001180202.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two different splice sites in the coding region which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AK296978, AL583832, BC075059, BQ020418, DA797022
    UniProtKB/Swiss-Prot
    Q15291
    UniProtKB/TrEMBL
    B4DLF8
    Conserved Domains (2) summary
    COG2319
    Location:10194
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:31195
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_005057.3NP_005048.2  retinoblastoma-binding protein 5 isoform 1

    See identical proteins and their annotated locations for NP_005048.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AL583832, BC075059, BQ020418, DA797022
    Consensus CDS
    CCDS30983.1
    UniProtKB/Swiss-Prot
    Q15291
    UniProtKB/TrEMBL
    A0A024R9B5
    Related
    ENSP00000264515, OTTHUMP00000035177, ENST00000264515, OTTHUMT00000090077
    Conserved Domains (2) summary
    COG2319
    Location:38321
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:30322
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    205086142..205122022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245401.2XP_005245458.1  

    See identical proteins and their annotated locations for XP_005245458.1

    Conserved Domains (2) summary
    COG2319
    Location:38321
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:30322
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_011509833.1XP_011508135.1  

    See identical proteins and their annotated locations for XP_011508135.1

    Conserved Domains (2) summary
    COG2319
    Location:38321
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:30322
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_006711477.2XP_006711540.1  

    Conserved Domains (2) summary
    COG2319
    Location:998
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:1680
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. XM_005245398.2XP_005245455.1  

    See identical proteins and their annotated locations for XP_005245455.1

    Conserved Domains (3) summary
    COG2319
    Location:73356
    WD40; WD40 repeat [General function prediction only]
    pfam03247
    Location:373412
    Prothymosin; Prothymosin/parathymosin family
    cl02567
    Location:65357
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_011509834.1XP_011508136.1  

    Conserved Domains (3) summary
    COG2319
    Location:38321
    WD40; WD40 repeat [General function prediction only]
    pfam03247
    Location:338377
    Prothymosin; Prothymosin/parathymosin family
    cl02567
    Location:30322
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    206478601..206514510 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)